2581368653ENSG00000100347ENSMUSG00000022437Q9Y512Q8BGH2NM_015380NM_178614NP_056195NP_848729Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.

[5][6] By means of exome sequencing, two variants - P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, 9 year old male with Epilepsy, ESES, Hemiplegic Migraine, Exocrine Pancreatic Insuffiency, CSID, Global Apraxia, developmental regressions.

History of torticollis, psychomotor regression, colitis as well as Carnitine Deficiency.

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